April Showers (in the eyes)

Springtime always seems to bring me some tears.  It's an odd time of year to get sentimental and teary-eyed, but that's what grief is.

Unpacking the backyard firepit, cleaning up the yard.  These remind me of the fun times that Dan had in the backyard - driving around on his kid quad, chasing after us with sticks - laughing all the time.  I can't easily find it, but I remember putting him in snow pants because our backyard is usually soggy for most of April and sometimes into May.

Life of Dan - Life After Diagnosis

For Niemann Pick Disease awareness month, I wanted to post a few videos.  Many people who read this blog never met Dan when he was "healthy" and many never met him at all.




This video was taken in July 2011, about one month after we received his NPC diagnosis.  You can see that he still knows my voice, but has trouble picking his head up, using his arms and hands, is drooling a lot, and has lost most of his sounds.

We tried to keep him engaged in activities and things he enjoyed as much as we could.  His mental capacity has probably diminished and his motor skills were significantly declined.  We didn't have any special equipment or support - no specialized stroller, wheelchair, high chair, or bed.  We didn't have any financial or family support.  It was just the 3 of us.

In just a few short months we went from a child who could at least crawl, to one who couldn't pick his head up.  We also spent 3 weeks in the hospital and weren't allowed to get him out of bed, so I think the muscles weakened which hastened the disease progression.


You can see the other videos of Dan here and here.

Life of Dan - NPC Taking Hold

For Niemann Pick Disease awareness month, I wanted to post a few videos.  Many people who read this blog never met Dan when he was "healthy" and many never met him at all.

This was taken around age 4.  As you can see Dan still cannot talk and now is having trouble getting to a standing position.  You can compare this video to the others here and here.

One of the hardest things is looking at these videos so many years later.  At the time you see some of the decline, but you don't realize the extent until many years later.

When I was watching this one, I had tears streaming down my face.  You can see how normal Dan looks, generally, with the exception of being able to get to a standing position.

This is what NPC does to children....this is the regression.  This is what makes it so hard on families. 

The Life of Dan - Eating

For Niemann Pick Disease awareness month, I wanted to post a few videos.  Many people who read this blog never met Dan when he was "healthy" and many never met him at all.

This video is a bit long, but it is one of my all time favorites!  Here is Dan at about 20 months.  He is eating sherbert because the lactose in the milk made him uncomfortable.  We were never really able to determine if it was a lactose issue or a symptom of Niemann Pick Type C.

At the time of this video, we were still undiagnosed and had never heard of Niemann Pick Type C.

The Life of Dan - Age 2

For Niemann Pick Disease awareness month, I wanted to post a few videos.  Many people who read this blog never met Dan when he was "healthy" and many never met him at all.

This video was taken on the date in the video.  Dan was a few weeks shy of his second birthday.  We had undergone a lot of testing which didn't yield any results.  He remained undiagnosed for another 2 1/2 years.

 

 

 

So here is Dan when he was just about age 2.  Besides his speech, he seems pretty normal.  You can't really see it, but his abdomen is larger than usual.  That was his only obvious symptom of Niemann Pick Disease, Type C.

Smiles and Tears

When you have kids, you baby-proof.  One aspect of baby-proofing is putting latches on cabinet doors so little fingers can't open them and eat chemicals or have items everywhere.

We have one cabinet that was away from all the others.  So we decided to make that a toy cabinet.  We would put toys in there for Dan to play with and he would take them out and put them back or put other things in there...including himself!

We obviously cleared out the cabinet in the past few years.  We put random things in it and truthfully, I forgot what we put in there.  Well, Shelby found the cabinet and I found out.

Oooo...papers!  Let me see what trouble I can get into!

And then this happened.

Bragging Rights from the Oscars!!!

We won Best Picture!!! We won Best Picture!!!

Ok, Ok, I, personally, can't really claim any of the credit.  But I've got your attention.


The story synopsis from Yahoo Movie:

In the pre-Civil War United States, Solomon Northup, a free black man from upstate New York, is abducted and sold into slavery. Facing cruelty at the hands of a malevolent slave owner, as well as unexpected kindnesses, Solomon struggles not only to stay alive, but to retain his dignity. In the twelfth year of his unforgettable odyssey, Solomon's chance meeting with a Canadian abolitionist will forever alter his life.

 Here is the movie trailer from YouTube:



So what are the bragging rights?  The movie is based on real life events in a book written by Solomon Northup, who lived in Saratoga Springs.  Saratoga Springs is only about 15 minutes away from where I live and is in the same county, so I'm claiming the bragging rights!!

Here is the link to the local newspaper article about the movie and the win.

How often can you say that the Oscar award-winning Best Picture movie is from where you live?

An incredible look at NPC research

On November 14, the Wall Street Journal published online a special report TRIALS: A Desperate Fight to Save Kids & Change Science about the long and winding journey of research into Niemann Pick Type C and the use of cyclodextrin as a possible treatment.  The November 15th paper had a shortened version of this special report.

Here is the "teaser" video:
A group of parents and scientists is seeking a treatment for a fatal genetic disease that strikes children. Their collaboration is pushing the boundaries of medical research. A preview of a WSJ Special Project. Music by Dexter Britain http://on.wsj.com/19nKvDc



The author, Amy, spent 6 years following several families and capturing the highs and lows of living with and treating NPC.  Amy was at the NNPDF conference in Baltimore in August and was able to speak to many families first hand.

Yes, the book is long (10 chapters) and it is quite interactive with videos and comment areas.  But it is so worth the read to understand NPC and how research in general takes its twists and turns in developing a drug to treat a rare disease (any rare disease).

Please take the time to read the story or watch the videos.  Please share them with others.  There may be one researcher, somewhere, who has a missing link to help all these families have better tomorrows.  By sharing, you also spread awareness of this rare disease and more people (doctors included) become familiar with it and can more quickly diagnose it when they see it.

Wall Street Journal Article: http://projects.wsj.com/trials/?mod=e2fb
PDF E-book: http://projects.wsj.com/trials_ebooks/TRIALS.pdf
EPub E-book (Apple iReader and other readers): http://projects.wsj.com/trials_ebooks/TrialsBook.epub
Kindle (text only): http://projects.wsj.com/trials_ebooks/TrialsBook.mobi


Dillon Papier's story: http://youtu.be/BkWvTLhh0_0





The Marella Family's story: http://youtu.be/ra-nZKmENmQ





The Hempel Family: http://youtu.be/MgMVwSDq4QQ





The use of the robot in research: http://youtu.be/ra0e97Wiqds

Awareness Videos

October is National Niemann Pick Disease Awareness Month

Here are a few videos that were created by families to raise awareness.  There are quite a few. Any type of You Tube search will provide quite a selection of videos to watch.

This is Kamryn Brumbeloe from 2012 when she was one. I met Kamryn in Nashville at the NNPDF conference last year. You can read more about her here.




This is in memory of Riley Corbitt who died at age 6.  I never had a chance to meet Riley, but her sister and her other and great-aunt still champion for a cure.

Adult Onset Niemann Pick Type C

October is National Niemann Pick Disease Awareness Month

• Niemann-Pick Disease Type C in Adults by J. Imrie & J.E. Wraith
• Adult-Onset Niemann-Pick Type C Disease: A Clinical, Neuroimaging, and Molecular Genetic Study
• The Adult Form of Niemann-Pick Disease Type C by Marie Vanier (NNPDF Scientific Advisory Board Member)

Brad & Bart Mackie ~ Adult NPC

Brad (Adult-NPC) & Bart (Adult-NPC) Mackie with their cousin, Dana Wilson in the center

We were recently contacted by Lynn Lambright who wanted to share with the community this video of her son, Brad, with his loyal companion Dusty.

Both Brad (age 53) & his brother Bart (age 51) have adult on-set NPC.  Their mother, Lynne, commented on how they are both courageously dealing with the loss of most of their abilities, yet they have a daily drive to stay connected with family and friends.  

Adult onset NPC is still a new and undiscovered area for, not only the families who have a loved one diagnosed with NPC, but also for the various patient advocacy groups who offer support. This is an area that the NNPDF is working towards offering more services and support to our families and adults with late-onset NPC. 

Letters for Chad Mayo

Chad Mayo (Adult-NPC)

I know that many of you have had the opportunity to “meet” and work with Margaret Mayo over the years on behalf of her son, Chad.  She was a strong supporter of the NNPD foundation's list-serv. She not only looked to the list-serv and the NPD family community for support, but also offered support to so many families, “time-and-time” again, as to her experiences and journey with her beloved son, Chad.  Margaret has contacted the central office to advise that Chad has had a difficult couple of months fighting off a MRSA infection followed by aspiration pneumonia.  

He was first diagnosed with NPC at NIH in 1998 when he was 23 years old.  It has been a long 16 years for all involved and Chad has given an heroic fight, but is now quite ill and has gone home with “comfort care” through hospice.  His family has asked that the NPD family community do one last act of kindness on behalf of Chad. Please see their message below:

*October 10th, 2013* Family Request for Chad Mayo, NPC, age 39 years. 

Parents: Margaret and William of Pennsylvania ~ members of the NNPDF.

Dear friends and family.

My brother Chad Mayo is in the final stage of his fight with with Niemann- Pick Type C. I am asking that all those that have had the pleasure of knowing Chad lift him up in prayer. I would like to have Chad's final days filled with love and kind words letting him know that his life had such great meaning. If you would be so kind to take a minute and send a card or write a letter letting him know how his smile made you feel, we will be sharing all the notes, cards and letters with him as them come in.

Please Mail to:
1175 Muhlenberg Ave
Swarthmore, Pa 19081

Thank you in advance! The Mayo Family

Click this link to read Chad's Story

Wild Weather

In the past 10 days we have had some wild, wild weather.

One week before Memorial Day, we had some severe thunderstorms overnight.  These storms woke us in the middle of the night with a large clap of thunder and a bright streak of lightening.  The lightening struck a tree outside the house and traveled through an electric conduit and popped one breaker, popped a few GFI outlets in the house, sizzled our carbon monoxide/propane sensor and sizzled our cordless telephone base.  Overall, minimal damage considering what could have happened.

The next day was bright, sunny, and summer hot!

By Memorial Day weekend, it was rainy, damp, and cold for May. You can see this from my post here.

About 3 hours north of me in the Adirondack Mountains one of the ski places had almost 3 feet of snow!




Then on Wednesday night we had 2 tornadoes come through near where I live. They missed us, but we did hear and see some of the thunderstorms that caused the tornadoes.

And today, it's expected to be about 90 degrees.









Looks like Mother Nature can't make up her mind.

Remembering Little Ones

This song came out shortly before Dan died and there were many family members who we thought of for which it would apply for.  But after Dan died, it became more important....




And here are the lyrics.


Another mom posted the lyrics to a Martina McBride song too

In Memory

October is Niemann Pick Disease Awareness Month.

Today is a difficult day for the Lopez family.  It was one year ago when they lost their Gavin to NPC.  Kristen, Gavin's mom, had started a blog which we had followed daily during Gavin's last few weeks.  Kristen has continued the blog as a place to put her feelings and emotions.  Although made a few years ago, here is a video of Gavin.

Although I have never met Kristen and her family, I feel close to her....we are walking the same path at the same time.


Four years ago yesterday, little Riley Corbitt became an angel.  See her video.


Here is a (non-comprehensive) list of those who have been lost to all Niemann Pick Diseases.  Please take a minute and read through this list and say a quick prayer for comfort for these families.


Here are some pictures of those who have Niemann Pick Disease. There are 12 pages, and it is not a complete compilation.


Memorial Services at the NNPDF Conferences:
2012 in Nashville, TN
2011 in  Norfolk, VA
2010 in Toronto, Canada
2009 in Seattle, WA
2008 in Atlanta, GA

Random Awareness Items

October is Niemann Pick Disease Awareness Month.

During this month, I have put out a bunch of items on awareness.  I wanted to provide a few updates.

Following After Trek
The Ingram's started a Kickstarter page to get their book published.  I am excited to report the final numbers: 168 backers, $6,296!  This will allow them to print 500 paperback copies of the book.  You can see more about the Kickstarter project here.


Calender for Awareness
A friend of an NPA family is a Creative Memories Consultant in Canada.  She is creating a calendar highlighting over 30 people with the different types of Niemann Pick Disease.  Only a fixed number of calendars will be printed.  Orders need to be placed by October 30.  If you are interested ($32 each Canadian which includes shipping), please contact Elsa for an order form at: cardinal.hudson (at) live.ca


An NPA Video
Damon (Dec 26, 2006 - April 16, 2008)

NPC Videos

October is Niemann Pick Disease Awareness Month.

 To compliment yesterday's post, here are some videos of those with NPC.

Gavin (April 14, 2004 - Oct 30, 2011)





Brisan and Parker





Hollie (from England)

Book update

October is Niemann-Pick Disease Awareness Month.

Remember my post about helping to get a book published?  Today is the last day to help the Ingram family.  They have well exceeded their goal of $3,000 to get 200 books published.  All the extra funds will be used to publish more books.

Please take a minute to go to the Kickstarter website and look at the information posted there and if you can provide any last minute help, I know they would appreciate it.

Below is the video that they created to include on the page.  I am posting it here so everyone can view it when it is convenient, even after the Kickstarter project is over.

A little about the Ingram family:
When their 3rd son, Trek, was born in their driveway, they knew they had to follow their dreams.  So they sold their possessions and purchased one-way tickets to Thailand.  Before they left, they found out that Trek had Niemann Pick Type A, the most serious form of Niemann Pick Disease.  After consulting with doctors, researchers and their own inner emotions, they decided to follow their dream and travel the world.  They spent time in Central and South America.  They returned stateside for a bit and then took off to Japan and Thailand, where Trek died in their arms.

NPA Videos

October is Niemann-Pick Disease Awareness Month.

To continue the post from yesterday, here are some videos of those with NPA.



Wylder (May 15, 2009 - July 20, 2012)






Kaitlyn (July 1, 2009 - Mar 22, 2012)






Tehyez (June 9, 2008 - April 27, 2011)




Faith (July 3, 2005 -  Feb 12, 2007)

International Friends

October is Niemann-Pick Disease Awareness Month.

NPD is not just confined to the United States.  There are several families that I talk with in United Kingdom that have also lost their children, and others that have children who are affected.  Below is a small sampling.

Below is a video of Calum Burdon, from the UK, who lost his battle on December 26, 2011.  Calum reminds us so much of Dan, although Calum was a couple of years older.




This is a video of Ben (and his sisters), from the UK, who also lost his battle to NPC in April 2012.






This is Anabel in Portugal.





This is Nanami in Japan.

From Australia.  Sadly Matt (Sitting) lost his battle with NPC Disease on July 14, 2012. 

Damien in Switzerland with NPB

Amber in New Zealand  with NPA.  We had the wonderful pleasure of meeting this darling and her parents when we were in Nashville.

Niemann-Pick Disease, What is It? Why is it a Child Killer?

October is Niemann-Pick Disease Awareness Month.


A family affected by NPD created this video.  Although several years old, the information is still highly accurate. 

Gabrielle LaVerde, featured at the end, lost her battle with NPC in February 2012, at the age of 10 1/2.